Variant report

Variant	rs10233314
Chromosome Location	chr7:102079225-102079226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102079059-102079813	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:102079192-102079848	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:102079198-102079961	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102077007..102082389-chr7:102085865..102088715,6	K562	blood:
2	chr7:102076234..102078116-chr7:102079092..102080938,2	MCF-7	breast:
3	chr7:102078066..102079925-chr7:102090225..102091966,2	MCF-7	breast:
4	chr7:102079057..102082389-chr7:102085865..102088701,3	K562	blood:
5	chr7:102079222..102081344-chr7:102111706..102113322,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239480	TF binding region
ENSG00000264471	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10229997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239259	1.00[AMR][1000 genomes]
rs10249883	1.00[AMR][1000 genomes]
rs10259907	1.00[AMR][1000 genomes]
rs10262517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278236	1.00[AMR][1000 genomes]
rs10280149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28629461	1.00[AMR][1000 genomes]
rs28669211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28672083	1.00[AMR][1000 genomes]
rs6970836	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	esv1832541	chr7:102072448-102328097	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102074600-102085400	Weak transcription	Gastric	stomach
2	chr7:102074600-102086800	Weak transcription	Aorta	Aorta
3	chr7:102074800-102080400	Weak transcription	Small Intestine	intestine
4	chr7:102075000-102079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:102075000-102080400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:102075000-102080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:102075000-102080600	Weak transcription	HSMM	muscle
8	chr7:102075000-102080800	Weak transcription	Right Atrium	heart
9	chr7:102075000-102082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:102075000-102086800	Weak transcription	Fetal Lung	lung
11	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:102075200-102079400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:102075200-102079400	Weak transcription	NHLF	lung
15	chr7:102075200-102079600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:102075200-102079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:102075200-102080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:102075200-102080400	Weak transcription	HMEC	breast
19	chr7:102075200-102080400	Weak transcription	NHDF-Ad	bronchial
20	chr7:102075200-102080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:102075200-102080600	Weak transcription	Left Ventricle	heart
22	chr7:102075200-102080600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:102075200-102080600	Weak transcription	Hela-S3	cervix
24	chr7:102075200-102080600	Weak transcription	K562	blood
25	chr7:102075200-102080800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:102075200-102082000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:102075200-102085600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:102075200-102086800	Weak transcription	Liver	Liver
29	chr7:102075200-102086800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:102075200-102086800	Weak transcription	Colonic Mucosa	Colon
31	chr7:102075200-102086800	Weak transcription	Fetal Intestine Large	intestine
32	chr7:102075200-102087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:102075200-102092000	Weak transcription	Esophagus	oesophagus
34	chr7:102075200-102095200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:102075200-102097600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:102075200-102104200	Weak transcription	Fetal Kidney	kidney
37	chr7:102075400-102079400	Weak transcription	Lung	lung
38	chr7:102075400-102080400	Weak transcription	NH-A	brain
39	chr7:102075400-102080600	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:102075400-102080800	Weak transcription	Adipose Nuclei	Adipose
41	chr7:102075400-102080800	Weak transcription	Fetal Heart	heart
42	chr7:102075400-102080800	Weak transcription	HepG2	liver
43	chr7:102075400-102082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:102075400-102087000	Weak transcription	Placenta	Placenta
45	chr7:102075400-102087000	Weak transcription	Pancreas	Pancrea
46	chr7:102075400-102087000	Weak transcription	Dnd41	blood
47	chr7:102075400-102097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:102075600-102103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:102075800-102079400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:102075800-102080200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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